A22V (p.Ala22Val) variant of COQ8A (Q8NI60)
A22V (p.Ala22Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 1-226961450-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.12
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available